Machine learning for predicting crohn's disease from routine blood tests years before diagnosis: results from the epi-IIRN cohort.

Objectives: In this nationwide study, we used the epi-Israeli Inflammatory Bowel Disease (IBD) Research Nucleus (IIRN) validated cohort to explore the utility of routine blood tests as markers predicting IBD occurrence years before diagnosis.

Methods: We included all health maintenance organization (HMO)-insured IBD patients in Israel diagnosed during 2005-2020 to identify discriminative results of blood tests performed up to 15 years before diagnosis. Each patient was individually matched to two non-IBD controls.

The active cohort: a population-based smartphone intervention for health outcomes.

Background: The Clalit Active Cohort Study (CACS) assess the impact of lifestyle factors, particularly physical activity, on short- and long-term health outcomes using real-world data. Launched in January 2021, CACS focuses on Clalit Health Services members with supplemental health insurance who use the Clalit Active smartphone app.

Methods: The study integrates data from the Clalit Active app with electronic health records from CHS, covering primary and secondary care, hospitalizations, medications, laboratory results, and imaging.

Genetics first approach: Expanding the utility of genetic testing by nongeneticist physicians.

Purpose: The increasing demand for genetic testing and a global shortage of geneticists has significantly strained health care systems worldwide. This highlighted the need for new strategies aiming to increase testing accessibility, reduce wait times, and enhance patient care quality.

Methods: We implemented a 4-step program, "Genetics First," to empower nongeneticist physicians (NGPs) to play an active role in the process of genetic consultation and testing.

A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs.

HIKESHI-related hypomyelinating leukodystrophy (HHL) is a life-threatening disorder caused by homozygous pathogenic variants in . Symptoms include infantile onset progressive spastic dystonic quadriplegia, nystagmus, failure to thrive, diffused hypomyelination, and severe morbidity or death following febrile illness. V54L variants in are particularly prevalent within the Ashkenazi Jewish population.

Can we identify individuals at risk to develop multiple myeloma? A machine learning-based predictive model.

Multiple myeloma evolves unnoticed over years, and when diagnosed, organ damage is common. Electronic health records (EHR) can help in developing predictive models identifying 'healthy' people at risk. MM patients from Clalit Health Services (2002-2019) were matched with healthy controls.

Ethnic Disparities in the Management of Inflammatory Bowel Disease in Israel and Impact on Outcomes.

Background: In this nationwide study, we aimed to explore healthcare services utilization, medical management, and disease outcomes of inflammatory bowel diseases (IBD) across the 2 major ethnic groups in Israel.

Methods: We utilized a cohort including all patients diagnosed with IBD in Israel since 2005. The primary outcome was steroid dependency, with secondary outcomes including use of biologics, time to surgery, and hospitalizations.

No association between FMR1 premutation and either ADHD or anxiety in 53,707 women undergoing genetic testing for family planning purposes.

Purpose: FMR1 premutation has been inconsistently associated with neuropsychiatric phenotypes, possibly because of ascertainment bias. We investigated the association between FMR1 premutation and attention deficit hyperactivity disorder (ADHD), anxiety, and other psychiatric disorders in large-scale population-based genetic carrier screening data.

Methods: We defined premutation as having 58 to 200 CGG repeats.

Strengthening recovery: the impact of paired exercises in geriatric hip fracture rehabilitation-the PaLMe project.

Purpose: This study aimed to evaluate the effectiveness of the PaLMe concept, which incorporates paired exercises into rehabilitation for old patients recovering from hip fracture surgery, and to assess the feasibility of implementing an online rehabilitation program in this population.

Methods: A prospective, randomized interventional study was conducted in a hospital setting. A total of 93 participants (mean age: 80.

Real-world impact of physical activity reward-driven digital app use on cardiometabolic and cardiovascular disease incidence.

Background: The lack of effective tools available to health providers for enhancing patient physical activity prompts this study to examine the real-world impact of a physical activity reward-driven app on health outcomes, utilizing Electronic Health Records (EHR) data from Israel's largest healthcare organization.

Methods: Conducting a retrospective cohort study, we matched app-users to non-users based on demographic and clinical characteristics.

Results: App-users have a significantly lower risk of cardiovascular disease (HR 0.

Safety and effectiveness of MVA-BN vaccination against mpox in at-risk individuals in Germany (SEMVAc and TEMVAc): a combined prospective and retrospective cohort study.

Background: More than 115 000 cases of mpox have been confirmed since the onset of a global outbreak in 2022. In addition to global transmission of clade II monkeypox virus (MPXV), the recent spread of clade I has caused a Public Health Emergency of International Concern. The third-generation smallpox vaccine modified vaccinia Ankara-Bavarian Nordic (MVA-BN) was recommended for at-risk populations in 2022, despite a scarcity of data on safety and effectiveness against mpox.

Lessons learned from BRCA1/2 screening in Israel: A cross-sectional survey comparing experiences and communication.

This study aimed to evaluate the perceived quality of pre- and post-test explanations given to women carrying BRCA1/2 variants, and to compare these outcomes between two cohorts: female BRCA1/2 carriers identified through self-reported population-based screening (the screening group), in comparison to self-reported formal pre-test genetic counseling due to personal or familial cancer history (genetic counseling group). This cross-sectional survey of female BRCA1/2 carriers employed an anonymous questionnaire distributed through the "Good Genes - a support and information group for BRCA carriers" association from January to March 2023. Main evaluated outcomes included the perceived quality of pre- and post-test explanations, first analyzed in the overall cohort, and then compared between the 110 respondents in the screening group, to 444 women in the counseling group.

Risk of Age-related and Disease-related Complications and Mortality in Elderly-onset Inflammatory Bowel Disease - A Population-based Study.

Background & Aims: In this nationwide cohort from Israel (Epi-IIRN), we aimed to characterize risks for age-related complications, mortality, and inflammatory bowel disease (IBD)-related surgeries in patients with elderly-onset IBD (EO-IBD).

Methods: Data of patients with EO-IBD (≥65 years) diagnosed during 2005 to 2020 were retrieved from the epi-IIRN database. Patients with EO-IBD were compared with 3 age-, sex-, and district-matched non-IBD individuals, for age-related outcomes.

Effectiveness of AZD7442 (Tixagevimab/Cilgavimab) for Pre-Exposure Prophylaxis Against COVID-19 Hospitalization in Israel During the Omicron Sub-Variant Time Period.

Introduction: The effectiveness of AZD7442 (tixagevimab/cilgavimab) against COVID-19 hospitalizations was determined at 3 and 6 months among immunocompromised individuals in Israel during different variant circulations.

Methods: This was a retrospective cohort study using data from Clalit Health Services in Israel. Immunocompromised individuals eligible to receive AZD7442 300 mg between 15 February and 11 December 2022 were identified.

ClinVec: Unified Embeddings of Clinical Codes Enable Knowledge-Grounded AI in Medicine.

Integrating structured clinical knowledge into artificial intelligence (AI) models remains a major challenge. Medical codes primarily reflect administrative workflows rather than clinical reasoning, limiting AI models' ability to capture true clinical relationships and undermining their generalizability. To address this, we introduce , a clinical knowledge graph that integrates eight EHR-based vocabularies, and , a set of 153,166 clinical code embeddings derived from using a graph transformer neural network.

Trends of common laboratory biomarkers after SARS-CoV-2 infection.

Background: Most studies that explore the long-term effects of COVID-19 are based on subjectively reported symptoms, while laboratory-measured biomarkers are mainly examined in studies of relatively small cohorts. This study investigates the long-term effects of SARS-CoV-2 infection on common laboratory biomarkers.

Methods: We utilized a retrospective cohort of SARS-CoV-2 infected individuals and rigorously matched controls based on demographic and clinical characteristics, examining 63 common laboratory biomarkers.

Randomised immunogenicity trial comparing 2019-2020 recombinant and egg-based influenza vaccines among frequently vaccinated healthcare personnel in Israel.

Objectives: Trivalent inactivated influenza vaccine effectiveness was low in a prospective cohort of healthcare personnel (HCP) in Israel from 2016 to 2019. We conducted a randomised immunogenicity trial of quadrivalent recombinant influenza vaccine (RIV4) and standard-dose inactivated influenza vaccine (IIV4) among frequently and infrequently vaccinated previous cohort participants.

Methods: From October 2019 to January 2020, we enrolled and randomly allocated HCP from two Israeli hospitals to receive IIV4 or RIV4.

Causes and predictors of recurrent unplanned hospital admissions in heart failure patients: a cohort study.

Despite progress in therapy, heart failure (HF) inflicts a heavy burden of hospital admissions. In this study, we identified among 1360 community-dwelling HF patients (mean age 70.7 ± 11.

Incidence of laboratory-confirmed influenza and RSV and associated presenteeism and absenteeism among healthcare personnel, Israel, influenza seasons 2016 to 2019.

BackgroundHealthcare personnel (HCP) are at high risk for respiratory infections through occupational exposure to respiratory viruses.AimWe used data from a prospective influenza vaccine effectiveness study in HCP to quantify the incidence of acute respiratory infections (ARI) and their associated presenteeism and absenteeism.MethodsAt the start and end of each season, HCP at two Israeli hospitals provided serum to screen for antibodies to influenza virus using the haemagglutination inhibition assay.

PANGEN: an online platform for the comparison and creation of diagnostic gene panels.

Targeted gene panel sequencing is used to limit the search for causative genetic variants solely to genes with an established association with the phenotype. The design of gene panels is challenging due to the lack of consensus regarding phenotypic associations for some genes, which results in high variation in gene composition for the same panel offered by different laboratories. We developed PANGEN, a platform that provides a centralized resource for gene panel information, with the ability to compare and generate new intelligent diagnostic panels.

Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults.

Replication repair deficiency (RRD) is a pan-cancer mechanism characterized by abnormalities in the DNA mismatch repair (MMR) system due to pathogenic variants in the PMS2, MSH6, MSH2, or MLH1 genes, and/or in the polymerase-proofreading genes POLE and POLD1. RRD predisposition syndromes (constitutional MMR deficiency, Lynch, and polymerase proofreading-associated polyposis) share overlapping phenotypic and biological characteristics. Moreover, cancers stemming from germline defects of one mechanism can acquire somatic defects in another, leading to complete RRD.